内蒙古地区汉族支气管哮喘与ADAM33基因多态性的关系

The correlation between polymorphism of ADAM33 gene and bronchial asthma in Inner Mongolia Han population

为研究内蒙古地区汉族人群ADAM33基因T1、T2、V4、S2位点不同基因型及等位基因频率的分布并探讨ADAM33基因多态性与支气管哮喘的关系,选用聚合酶链反应-限制性片段长度多态性技术对汉族哮喘患者178例进行ADAM33基因多态性的检测,与195例健康汉族(对照组)进行比较,筛选有意义的基因,同时根据病情严重程度将哮喘组分为轻、中、重度组,比较不同程度组基因型分布差异。结果显示内蒙古地区汉族人群均可检出T1、T2、V4、S2位点的3种基因型,T2、V4位点基因型及等位基因的两组比较差异无统计学意义,而T1、S2位点基因型及等位基因的两组比较差异有统计学意义,各位点基因型在轻、中、重度组分布频率差异无统计学意义。由此证明ADAM33基因T1、S2位点多态性在中国内蒙古地区汉族哮喘人群中可能发挥作用,而V4、T2位点多态性可能与内蒙古地区汉族人群哮喘无关;各位点基因多态性可能与汉族哮喘严重程度无关。

We aimed to investigate the polymorphism of T1, T2, V4, S2 sites of ADAM33 gene and to discuss the relationship between ADAM33 gene polymorphism and bronchial asthma in Han population in Inner Mongolia. Restriction fragment length polymorphism (PCR-RFLP) was used to detect ADAM33 gene polymorphism. 178 patients with asthma of Han population were randomly selected, and 195 healthy individuals of the same population were used as controls. The patients were divided into mild, medium and severe group according to the state of attack to analyze the correlation of illness state to genotype.Three genotypes were detected at each of the 4 sites. Compared with the controls, there were no statistical difference in the frequencies of phenotype and genotype at T2 and V4 sites (P>0.05), whereas there were significant differences at T1 and S2 sites (P<0.05). There were no correlation between the distribution of genotype and illness severity (P<0.05). These findings suggest the polymorphism of T1 and S2 loci in ADAM33 gene may play a role in asthma in Han population in Inner Mongolia, but V4 and T2 polymorphisms may not be related to asthma in Han population in Inner Mongolia. Genetic polymorphisms of ADAM33 gene may be irrelevant to the severity of asthma.